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Items: 1 to 20 of 3217

1.

rs1491494314 has merged into rs60658762 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    1:232312396 (GRCh38)
    1:232448142 (GRCh37)
    Canonical SPDI:
    NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:232312384:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LOC101929902 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.232312396_232312404del, NC_000001.11:g.232312398_232312404del, NC_000001.11:g.232312399_232312404del, NC_000001.11:g.232312400_232312404del, NC_000001.11:g.232312401_232312404del, NC_000001.11:g.232312402_232312404del, NC_000001.11:g.232312403_232312404del, NC_000001.11:g.232312404del, NC_000001.11:g.232312404dup, NC_000001.11:g.232312403_232312404dup, NC_000001.11:g.232312402_232312404dup, NC_000001.11:g.232312401_232312404dup, NC_000001.11:g.232312400_232312404dup, NC_000001.11:g.232312399_232312404dup, NC_000001.11:g.232312398_232312404dup, NC_000001.11:g.232312397_232312404dup, NC_000001.11:g.232312396_232312404dup, NC_000001.11:g.232312395_232312404dup, NC_000001.11:g.232312394_232312404dup, NC_000001.11:g.232312393_232312404dup, NC_000001.11:g.232312392_232312404dup, NC_000001.11:g.232312391_232312404dup, NC_000001.11:g.232312390_232312404dup, NC_000001.11:g.232312389_232312404dup, NC_000001.11:g.232312388_232312404dup, NC_000001.11:g.232312387_232312404dup, NC_000001.11:g.232312386_232312404dup, NC_000001.11:g.232312385_232312404dup, NC_000001.11:g.232312404_232312405insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.232312404_232312405insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.232448142_232448150del, NC_000001.10:g.232448144_232448150del, NC_000001.10:g.232448145_232448150del, NC_000001.10:g.232448146_232448150del, NC_000001.10:g.232448147_232448150del, NC_000001.10:g.232448148_232448150del, NC_000001.10:g.232448149_232448150del, NC_000001.10:g.232448150del, NC_000001.10:g.232448150dup, NC_000001.10:g.232448149_232448150dup, NC_000001.10:g.232448148_232448150dup, NC_000001.10:g.232448147_232448150dup, NC_000001.10:g.232448146_232448150dup, NC_000001.10:g.232448145_232448150dup, NC_000001.10:g.232448144_232448150dup, NC_000001.10:g.232448143_232448150dup, NC_000001.10:g.232448142_232448150dup, NC_000001.10:g.232448141_232448150dup, NC_000001.10:g.232448140_232448150dup, NC_000001.10:g.232448139_232448150dup, NC_000001.10:g.232448138_232448150dup, NC_000001.10:g.232448137_232448150dup, NC_000001.10:g.232448136_232448150dup, NC_000001.10:g.232448135_232448150dup, NC_000001.10:g.232448134_232448150dup, NC_000001.10:g.232448133_232448150dup, NC_000001.10:g.232448132_232448150dup, NC_000001.10:g.232448131_232448150dup, NC_000001.10:g.232448150_232448151insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.232448150_232448151insAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491388408 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      1:232315902 (GRCh38)
      1:232451649 (GRCh37)
      Canonical SPDI:
      NC_000001.11:232315902:G:GG
      Gene:
      LOC101929902 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      GG=0./0 (ALFA)
      HGVS:
      3.

      rs1491311229 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CC>- [Show Flanks]
        Chromosome:
        1:232312205 (GRCh38)
        1:232447951 (GRCh37)
        Canonical SPDI:
        NC_000001.11:232312204:CC:
        Gene:
        LOC101929902 (Varview)
        Functional Consequence:
        intron_variant
        HGVS:
        4.

        rs1491194306 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          1:232304764 (GRCh38)
          1:232440510 (GRCh37)
          Canonical SPDI:
          NC_000001.11:232304762:ACA:A
          Gene:
          LOC101929902 (Varview)
          Functional Consequence:
          intron_variant
          HGVS:
          5.

          rs1491181334 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            1:232315903 (GRCh38)
            1:232451649 (GRCh37)
            Canonical SPDI:
            NC_000001.11:232315901:AGA:A
            Gene:
            LOC101929902 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491029915 has merged into rs34851868 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC [Show Flanks]
              Chromosome:
              1:232315463 (GRCh38)
              1:232451209 (GRCh37)
              Canonical SPDI:
              NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:232315447:CACACACACACACACACAC:CACACACACACACACACACACACACACAC
              Gene:
              LOC101929902 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CACACACACACACACAC=0./0 (ALFA)
              CA=0.3085/1545 (1000Genomes)
              HGVS:
              7.

              rs1491006226 has merged into rs1191356095 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                Chromosome:
                1:232312222 (GRCh38)
                1:232447968 (GRCh37)
                Canonical SPDI:
                NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:232312205:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                Gene:
                LOC101929902 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CACACACACACACACACA=0./0 (ALFA)
                CA=0.2474/1239 (1000Genomes)
                HGVS:
                NC_000001.11:g.232312206CA[8], NC_000001.11:g.232312206CA[9], NC_000001.11:g.232312206CA[10], NC_000001.11:g.232312206CA[11], NC_000001.11:g.232312206CA[12], NC_000001.11:g.232312206CA[13], NC_000001.11:g.232312206CA[14], NC_000001.11:g.232312206CA[16], NC_000001.11:g.232312206CA[17], NC_000001.11:g.232312206CA[18], NC_000001.11:g.232312206CA[19], NC_000001.11:g.232312206CA[20], NC_000001.11:g.232312206CA[21], NC_000001.11:g.232312206CA[22], NC_000001.11:g.232312206CA[23], NC_000001.11:g.232312206CA[24], NC_000001.11:g.232312206CA[25], NC_000001.11:g.232312206CA[26], NC_000001.11:g.232312206CA[27], NC_000001.11:g.232312206CA[28], NC_000001.11:g.232312206CA[29], NC_000001.11:g.232312206CA[30], NC_000001.10:g.232447952CA[8], NC_000001.10:g.232447952CA[9], NC_000001.10:g.232447952CA[10], NC_000001.10:g.232447952CA[11], NC_000001.10:g.232447952CA[12], NC_000001.10:g.232447952CA[13], NC_000001.10:g.232447952CA[14], NC_000001.10:g.232447952CA[16], NC_000001.10:g.232447952CA[17], NC_000001.10:g.232447952CA[18], NC_000001.10:g.232447952CA[19], NC_000001.10:g.232447952CA[20], NC_000001.10:g.232447952CA[21], NC_000001.10:g.232447952CA[22], NC_000001.10:g.232447952CA[23], NC_000001.10:g.232447952CA[24], NC_000001.10:g.232447952CA[25], NC_000001.10:g.232447952CA[26], NC_000001.10:g.232447952CA[27], NC_000001.10:g.232447952CA[28], NC_000001.10:g.232447952CA[29], NC_000001.10:g.232447952CA[30]
                8.

                rs1490377423 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:232313601 (GRCh38)
                  1:232449347 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:232313600:T:C
                  Gene:
                  LOC101929902 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1490101971 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:232315354 (GRCh38)
                    1:232451100 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:232315353:C:T
                    Gene:
                    LOC101929902 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1489763410 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:232307232 (GRCh38)
                      1:232442978 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:232307231:A:G
                      Gene:
                      LOC101929902 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.00046/8 (TOMMO)
                      HGVS:
                      11.

                      rs1489213071 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:232309279 (GRCh38)
                        1:232445025 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:232309278:C:T
                        Gene:
                        LOC101929902 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1488408223 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:232312690 (GRCh38)
                          1:232448436 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:232312689:C:T
                          Gene:
                          LOC101929902 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1488303219 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            1:232305972 (GRCh38)
                            1:232441718 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:232305971:T:
                            Gene:
                            LOC101929902 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1488273159 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GGGTCAACATACACCA>- [Show Flanks]
                              Chromosome:
                              1:232306918 (GRCh38)
                              1:232442664 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:232306914:CCAGGGTCAACATACACCA:CCA
                              Gene:
                              LOC101929902 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CCA=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              -=0.000014/2 (GnomAD)
                              -=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1488123747 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:232303166 (GRCh38)
                                1:232438912 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:232303165:T:C
                                Gene:
                                LOC101929902 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1487810826 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->TT [Show Flanks]
                                  Chromosome:
                                  1:232313726 (GRCh38)
                                  1:232449473 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:232313726::TT
                                  Gene:
                                  LOC101929902 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  TT=0.00005/7 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487603272 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    1:232302941 (GRCh38)
                                    1:232438687 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:232302940:G:C
                                    Gene:
                                    LOC101929902 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1487577875 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      1:232309812 (GRCh38)
                                      1:232445558 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:232309811:G:A,NC_000001.11:232309811:G:C
                                      Gene:
                                      LOC101929902 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      A=0.000106/2 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1487424559 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        1:232311796 (GRCh38)
                                        1:232447542 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:232311795:A:T
                                        Gene:
                                        LOC101929902 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486440872 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          1:232310581 (GRCh38)
                                          1:232446327 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:232310580:A:T
                                          Gene:
                                          LOC101929902 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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